Sugi Variant

Sugi Variant/ATN1

ATN1 — 357 ClinVar variants

All ClinVar germline ATN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 232 flagged for review →

5 Pathogenic · 4 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 12 Conflicting · 18 Benign · 8 Benign/Likely benign · 65 Likely benign · 241 Uncertain significance

Full ATN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 232

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 110

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 119

The independent predictors disagree with each other — read with care.

All ATN1 variants

Pathogenic 5

  • p.Ile1057_His1060del Multiple submitters congenital hypotonia, epilepsy, developmental delay, and digital anomalies
  • p.His1058Tyr Single submitter ATN1-related disorder
  • p.Gln488[49_55] No assertion criteria dentatorubral-pallidoluysian atrophy
  • p.His1054Asn No assertion criteria Congenital ATN1 related disorder
  • p.Leu1063Arg No assertion criteria Congenital ATN1 related disorder

Pathogenic/Likely pathogenic 4

  • p.1061LH[3] Multiple submitters dentatorubral-pallidoluysian atrophy
  • p.His1052Pro Multiple submitters congenital hypotonia, epilepsy, developmental delay, and digital anomalies
  • p.Ser1059Leu Multiple submitters congenital hypotonia, epilepsy, developmental delay, and digital anomalies
  • p.His1062Arg No assertion criteria congenital hypotonia, epilepsy, developmental delay, and digital anomalies

Likely pathogenic 4

  • p.His1060Tyr Multiple submitters congenital hypotonia, epilepsy, developmental delay, and digital anomalies
  • p.1061LH[1] Single submitter congenital hypotonia, epilepsy, developmental delay, and digital anomalies
  • p.Ser1059Trp Single submitter Inborn genetic diseases
  • p.His1056Pro No assertion criteria congenital hypotonia, epilepsy, developmental delay, and digital anomalies

Conflicting classifications of pathogenicity 12

Benign 18

Benign/Likely benign 8

Likely benign 65

Uncertain significance 241